VCX3A |
- 0
Haplo
Score - 40
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- VCX3A (HGNC:18159) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- variable charge X-linked 3A
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- VCX3
- Alias symbols
- VCX-8r, VCX-8R, VCX-A
- %HI
- 94.12(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.31(Read more about gnomAD pLI score)
- LOEUF
- 1.87(Read more about gnomAD LOEUF score)
- Cytoband
- Xp22.31
- Genomic Coordinates
-
GRCh37/hg19: chrX:6451659-6453159 NCBI Ensembl UCSC GRCh38/hg38: chrX:6533618-6535118 NCBI Ensembl UCSC - MANE Select Transcript
- NM_016379.4 ENST00000381089.7 (Read more about MANE Select)
- Function
- May mediate a process in spermatogenesis or may play a role in sex ratio distortion. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.